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| DDG2P v3.12 | PNPLA2 | Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22832386, 17187067; Phenotypes: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PNPLA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA2. Publications for gene: PNPLA2 were updated from 17187067; 22832386 to 22832386; 17187067 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PNPLA2 | Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNPLA2 |
Rebecca Foulger gene: PNPLA2 was added gene: PNPLA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 17187067; 22832386 Phenotypes for gene: PNPLA2 were set to NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717 |
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